Annotation Detail

Information
Associated Genes
MET
Associated Variants
MET p.Val1238Ile (p.V1238I) ( ENST00000318493.11, ENST00000397752.8 )
MET p.Val1238Ile (p.V1238I) ( ENST00000318493.11, ENST00000397752.8 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000245.4(MET):c.3658G>A (p.Val1220Ile) AND not provided
ClinVar Allele ID
28922
ClinVar RefSeq Alternation Syntax
NM_001324402.2:c.2368G>A
ClinVar RefSeq Alternation Syntax
NM_000245.4:c.3658G>A
ClinVar RefSeq Alternation Syntax
NM_001127500.3:c.3712G>A
Clinical Significance Description
Pathogenic
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001579843
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs